Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55505
Gene name Gene Name - the full gene name approved by the HGNC.
NOP10 ribonucleoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NOP10
Synonyms (NCBI Gene) Gene synonyms aliases
CHINE2, DKCB1, NOLA3, NOP10P, PFBMFT9
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also incl
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029941 hsa-miR-26b-5p Microarray 19088304
MIRT031870 hsa-miR-16-5p Proteomics 18668040
MIRT038200 hsa-miR-151a-5p CLASH 23622248
MIRT1189297 hsa-miR-105 CLIP-seq
MIRT1189298 hsa-miR-194 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0001522 Process Pseudouridine synthesis NAS 9843512
GO:0003723 Function RNA binding IPI 18082603
GO:0005515 Function Protein binding IPI 16601202, 23685356, 25416956, 25910212, 30021884, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606471 14378 ENSG00000182117
Protein
UniProt ID Q9NPE3
Protein name H/ACA ribonucleoprotein complex subunit 3 (Nucleolar protein 10) (Nucleolar protein family A member 3) (snoRNP protein NOP10)
Protein function Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:32554502). This involves the isomerization of uridine such t
PDB 7BGB , 7TRC , 7V9A , 8OUE , 8OUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04135 Nop10p 3 52 Nucleolar RNA-binding protein, Nop10p family Family
Sequence
Sequence length 64
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ribosome biogenesis in eukaryotes   Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Dyskeratosis Congenita dyskeratosis congenita, autosomal recessive 1 rs121908092 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Pulmonary Fibrosis pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 33288886
Dyskeratosis Congenita Associate 16427014, 17507419, 19036115, 29055871, 30728146
Dyskeratosis Congenita Autosomal Recessive Associate 17507419
Endometrial Neoplasms Associate 35054812
Leukemia Lymphocytic Chronic B Cell Associate 28666010
Lung Neoplasms Associate 33288886
Melanoma Associate 35085295
Polycystic Ovary Syndrome Stimulate 38243290
Stroke Associate 37358014
Telomeric 22q13 Monosomy Syndrome Associate 37440454